RESUMEN
This study investigated the effectiveness of a psycho-behavioural intervention (PBI) for freezing of gait (FOG) management in people with Parkinson's disease, through a double-blind randomized controlled pilot trial conducted with nineteen participants. Though no significant between-group differences were found, PBI was feasible, well-tolerated by participants, and exhibited a trend towards improvement for FOG and depression, thereby warranting further longitudinal investigations.
Asunto(s)
Terapia Conductista/métodos , Trastornos Neurológicos de la Marcha/terapia , Enfermedad de Parkinson/terapia , Educación del Paciente como Asunto/métodos , Anciano , Depresión/etiología , Depresión/terapia , Método Doble Ciego , Estudios de Factibilidad , Femenino , Marcha , Trastornos Neurológicos de la Marcha/etiología , Trastornos Neurológicos de la Marcha/psicología , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/psicología , Proyectos Piloto , Resultado del TratamientoRESUMEN
To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. We detected a homozygous TREM2 R47C mutation in a patient with behavioral variant FTD without bone cysts or bone-associated phenotype. Two novel nonsense GRN mutations in 3 FTD patients from the Philippines were detected, but no known pathogenic mutations in other FTD-associated genes were found. In 45 subjects screened for C9orf72 repeat expansions, no pathogenic expansion (≥30 repeats) was identified, but there was a higher proportion of intermediate length (≥10-29 repeats) alleles in patients compared with controls (8/90 alleles, 8.9% vs. 9/164 alleles, 5.5%). Overall, we detected a mutation rate of 7.7% (4/52 patients) in our cohort. Given recent findings of enrichment of rare TREM2 variants (including R47C) in Alzheimer's disease, it is notable that we detected a homozygous TREM2 R47C carrier presenting with an FTD rather than an Alzheimer's disease phenotype.